Osteopoikilosis

Original Editor - Tomer Yona 

Lead Editors  

Definition/Description[edit | edit source]

Osteopoikilosis, also known as ‘Spotted Bone Disease’ is benign autosomal dominant bone disorder that characterised by small areas (Islands) of sclerotic bony lesions. Osteopoikilosis mainly appears in long bones, carpal and tarsal bones, the pelvis, sacrum and scapulae. It is a heritable condition, usually asymptomatic, in which osteosclerotic dysplasia of bones develops during childhood and persists throughout life.[1]

With an estimated incidence of 1:50.000, This disorder may appear in any ages between 15 and 60 years, with slightly more males than females affected.  Osteopoikilosis is typically asymptomatic, although, it has been reported that about 20% of patients will have some degree of articular pain or joint effusion [2][3]

Diagnostic Procedures & Clinical Presentation[edit | edit source]

Osteopoikilosis is typically diagnosed through radiological imaging, as it is often asymptomatic and does not manifest clinical signs that would lead to suspicion of the condition. The following diagnostic procedures are commonly employed to identify and confirm Osteopoikilosis:[4]

1. X-rays (Radiography):[edit | edit source]

  • Primary Diagnostic Tool: X-rays are the primary imaging modality used to diagnose Osteopoikilosis.
    Osteopoikilosis.jpg
    Characteristic Radiological Appearance: The hallmark of Osteopoikilosis is the presence of multiple small ovoid sclerotic bony lesions. These lesions are typically found throughout the skeleton, primarily in the long bones, carpal and tarsal bones, pelvis, sacrum, and scapulae.
  • Size and Distribution: These bony lesions vary in size, ranging from a few millimeters to about 1 centimeter. They are often clustered in groups and can be distributed symmetrically in the affected bones.
  • Radiological Pattern: Radiologists may observe these lesions as small, round or oval, well-defined, and radiopaque spots on X-ray images.[5]

2. Computed Tomography (CT):[edit | edit source]

  • Supportive Imaging: CT scans may be used to further characterize and confirm the presence of Osteopoikilosis.
  • Detailed Visualization: CT scans can provide more detailed images of the sclerotic bony lesions, which can aid in a more comprehensive evaluation[6]

It's important to note that the diagnosis of Osteopoikilosis is primarily based on the characteristic radiological appearance of sclerotic bony lesions in multiple skeletal locations. The absence of clinical symptoms further supports the diagnosis. In cases where there is uncertainty or the presence of other medical conditions, healthcare professionals may consider additional diagnostic tests or seek consultation with a specialist.

Management / Interventions[edit | edit source]

Osteopoikilosis does not degenerate to malignancy or affect bone strength and no specific treatment or further investigations are required for osteopoikilosis other than patient education and reassurance. This diagnosis should always be kept in mind to avoid unwarranted and expensive investigations.  some key management and intervention strategies include:
[2][3]

  • Patient Education:Patient education is a crucial aspect of Osteopoikilosis management. It is important to educate patients and their families about the nature of the condition, its benign character, and the absence of long-term health risks.
  • Regular Follow-Up:
    • Although Osteopoikilosis itself does not require active medical intervention, healthcare professionals may recommend periodic follow-up appointments. These appointments are intended to monitor the stability of the condition and assess for any development of symptoms.
    • Regular follow-up helps ensure that any potential complications or changes in the condition are detected early and addressed promptly.[4]
  • Differential Diagnosis Consideration:
    • Healthcare providers should be aware of the differential diagnosis and consider the possibility of other conditions with similar radiological appearances, such as osteopathia striata, melorheostosis, tuberous sclerosis, sclerotic bone metastases, or osteomas.
    • While Osteopoikilosis is usually asymptomatic, these other conditions may require different management strategies, so accurate diagnosis is important.[7]
  • Symptomatic Treatment (if needed):
    • In a small percentage of cases (approximately 20%), patients with Osteopoikilosis may experience articular pain or joint effusion. If symptoms arise, they should be treated symptomatically.
    • Pain management and physical therapy may be considered if necessary to address any discomfort. In summary, Osteopoikilosis is a benign and typically asymptomatic condition. Management primarily involves education, reassurance, regular monitoring, and addressing any symptoms if they arise. Ensuring accurate diagnosis and providing psychological support as needed are important components of the patient's care.[4]

References[edit | edit source]

  1. Benli IT, Akalin S, Boysan E, Mumcu EF, Kis M, Turkoglu D. Epidemiological, clinical and radiological aspects of osteopoikilosis. The Journal of Bone & Joint Surgery British Volume. 1992 Jul 1;74(4):504-6.
  2. 2.0 2.1 Hill CE, McKee L. Osteopoikilosis: An important incidental finding. Injury. 2015 Jul 1;46(7):1403-5.
  3. 3.0 3.1 Dasgupta R, Thomas N. Spotted bone disease. BMJ case reports. 2015 May 4;2015:bcr2014208422.
  4. 4.0 4.1 4.2 Panchal SR, Gawhale S, Shah NZ, Mohanty T. Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs. J Orthop Case Rep. 2021 Mar;11(3):98-101
  5. Tong EC, Samii M, Tchang F. Bone imaging as an aid for the diagnosis of osteopoikilosis. Clin Nucl Med. 1988;13(11):816-819. doi:10.1097/00003072-198811000-00009
  6. Tsai SY, Wang SY, Shiau YC, Wu YW. Benign incidental findings of osteopoikilosis on Tc-99m MDP bone SPECT/CT: A case report and literature review. Medicine (Baltimore). 2016 Jun;95(23):e3868. PMID: 27281099; PMCID: PMC4907677.
  7. Borman P, Özoran K, Aydoğ Ş, Coşkun S. Osteopoikilosis: report of a clinical case and review of the literature. Joint Bone Spine. 2002 Mar 31;69(2):230-3.